Pseudohypoaldosteronism Type 1PHACARVNCT00646828
Cardiovascular Evaluation of Adult PHA 1 Patients
An observational study of Pseudohypoaldosteronism Type 1, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure). Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Pseudohypoaldosteronism Type 1
- How many people
- 98 participants
- Where
- 1 siteFrance
- Study dates
- May 2008to May 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: patient with Pseudohypoaldosteronism type 1 and the family of these patient who dont have mineralocorticoid receptor mutation
Who may be able to join
- Age over 18
- Male or female gender
- Genotype in the PHA1.NET network
Who cannot join
- Not membership to a regime of Social Security or to a CMU
- Against indication in the realization of a MRI
- Cardiac NMR not possible
- Known cardiovascular disease for person not carrying MR mutation
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1
Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure). The study aims at assessing vascular and cardiac alterations in adults with a chronic increase in circulating aldosterone without hypertension. The investigated population will be patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor.
Read the detailed description
The study includes adult patients with mineralocorticoid receptor mutation as compared with not affected relatives. It includes also relatives of adult relative of patients with PHA1 in whom no mutation was found. Cardiovascular evaluation is conducted with cardiac and vascular ultrasound assessment and cardiac NMR, ambulatory blood pressure measurement.
Protocol duration is 2 days . Detailed genetic study is conducted in family without identified mutation in MINERALORECEPTOR.
- Conditions
- Pseudohypoaldosteronism Type 1
- Keywords
- Pseudohypoaldosteronism type 1, Mineralocorticoid receptor, Aldosterone, Cardiovascular disease
- Medical subject headings
- Pseudohypoaldosteronism, Cardiovascular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| without PHA1 | patients without mineralocorticoid receptor mutation | |
| PHA 1 | patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cardiac or vascular abnormality at ultrasound or NMR evaluation
Measured: day one
Secondary outcomes (2)
Extracellular volume, biology, autonomic nervous system abnormality
Measured: day one + day two
New gene responsible for PHA1
Measured: day one
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2008 (estimated)
- Study startMay 2008
- Primary completionMay 2011
- Study completionMay 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Pseudohypoaldosteronism Type 1Studies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 98 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Brigitte ESCOUBET, MD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00646828
- Sponsor's protocol ID
- P070139
- Acronym
- PHACARV
- Status last verified
- Jul 2010
- First submitted
- 28 Feb 2008
- Last updated
- 19 Jan 2012
- Results posted
- No
- Data monitoring committee
- No
Publications
Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. doi: 10.1002/humu.20371.
PubMed 16972228Sacre K, Brihaye B, Hyafil F, Serfaty JM, Escoubet B, Zennaro MC, Lidove O, Laissy JP, Papo T. Asymptomatic myocardial ischemic disease in antiphospholipid syndrome: a controlled cardiac magnetic resonance imaging study. Arthritis Rheum. 2010 Jul;62(7):2093-100. doi: 10.1002/art.27488.
PubMed 20506512Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, Laouenan C, Serfaty JM, Jeunemaitre X, Mentre F, Zennaro MC. Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. Circ Cardiovasc Genet. 2013 Aug;6(4):381-90. doi: 10.1161/CIRCGENETICS.113.000115. Epub 2013 Jul 14.
PubMed 23852419
Study at a glance
From the registry record, last updated by the sponsor on 19 Jan 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1
- ClinicalTrials.gov ID
- NCT00646828
- Acronym / sponsor ID
- PHACARV / P070139
- Conditions
- Pseudohypoaldosteronism Type 1
- Keywords
- Pseudohypoaldosteronism type 1, Mineralocorticoid receptor, Aldosterone, Cardiovascular disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 98 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- May 2008
- Primary completion
- May 2011 (actual)
- Study completion
- May 2011 (actual)
- First posted
- 31 Mar 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure). The study aims at assessing vascular and cardiac alterations in adults with a chronic increase in circulating aldosterone without hypertension. The investigated population will be patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor.
Detailed description
The study includes adult patients with mineralocorticoid receptor mutation as compared with not affected relatives. It includes also relatives of adult relative of patients with PHA1 in whom no mutation was found. Cardiovascular evaluation is conducted with cardiac and vascular ultrasound assessment and cardiac NMR, ambulatory blood pressure measurement.
Protocol duration is 2 days . Detailed genetic study is conducted in family without identified mutation in MINERALORECEPTOR.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| without PHA1 | – | –patients without mineralocorticoid receptor mutation |
| PHA 1 | – | –patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- patient with Pseudohypoaldosteronism type 1 and the family of these patient who dont have mineralocorticoid receptor mutation
Key inclusion criteria (3 listed)
- Age over 18
- Male or female gender
- Genotype in the PHA1.NET network
Key exclusion criteria (4 listed)
- Not membership to a regime of Social Security or to a CMU
- Against indication in the realization of a MRI
- Cardiac NMR not possible
- Known cardiovascular disease for person not carrying MR mutation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Cardiac or vascular abnormality at ultrasound or NMR evaluation
Time frame: day one
2 secondary outcomes
Extracellular volume, biology, autonomic nervous system abnormality
Time frame: day one + day two
New gene responsible for PHA1
Time frame: day one
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jan 2012.
- Background: PubMed 16972228Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. doi: 10.1002/humu.20371.
- Background: PubMed 20506512Sacre K, Brihaye B, Hyafil F, Serfaty JM, Escoubet B, Zennaro MC, Lidove O, Laissy JP, Papo T. Asymptomatic myocardial ischemic disease in antiphospholipid syndrome: a controlled cardiac magnetic resonance imaging study. Arthritis Rheum. 2010 Jul;62(7):2093-100. doi: 10.1002/art.27488.
- Derived from this study: PubMed 23852419Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, Laouenan C, Serfaty JM, Jeunemaitre X, Mentre F, Zennaro MC. Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. Circ Cardiovasc Genet. 2013 Aug;6(4):381-90. doi: 10.1161/CIRCGENETICS.113.000115. Epub 2013 Jul 14.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Brigitte ESCOUBET, MD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudohypoaldosteronism Type 1, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Jan 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cardiac or vascular abnormality at ultrasound or NMR evaluation (time frame: day one). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00646828, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jan 2012.